Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01901:Cstdc6'

179511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc6

Ensembl Gene

ENSMUSG00000079594

Gene Name

cystatin domain containing 6

Synonyms

BC117090, Gm1975

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

36142027-36154694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36154625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 11 (A11S)

Ref Sequence

ENSEMBL: ENSMUSP00000110500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114850]

AlphaFold

L7N257

Predicted Effect

probably damaging
Transcript: ENSMUST00000114850
AA Change: A11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110500
Gene: ENSMUSG00000079594
AA Change: A11S

Domain	Start	End	E-Value	Type
CY	1	96	3.09e-16	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,272,678 (GRCm39)		probably benign	Het
Aldh1a7	T	G	19: 20,695,103 (GRCm39)	Y154S	probably damaging	Het
Casc3	A	G	11: 98,713,947 (GRCm39)	D393G	probably damaging	Het
Cd180	A	G	13: 102,842,936 (GRCm39)	I661V	probably benign	Het
Cdh1	T	C	8: 107,384,392 (GRCm39)	S287P	probably damaging	Het
Clnk	T	C	5: 38,952,321 (GRCm39)	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,659,531 (GRCm39)	V100M	possibly damaging	Het
Ddhd2	A	G	8: 26,238,621 (GRCm39)	V53A	probably damaging	Het
Elovl7	T	A	13: 108,410,927 (GRCm39)		probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm14180	A	G	11: 99,625,053 (GRCm39)	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Golga5	G	A	12: 102,446,061 (GRCm39)		probably null	Het
Gpr162	A	T	6: 124,838,370 (GRCm39)	F93L	possibly damaging	Het
Kcnh8	G	A	17: 53,201,148 (GRCm39)		probably benign	Het
Lamp3	A	T	16: 19,492,169 (GRCm39)	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591 (GRCm39)	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,940,374 (GRCm39)	D211G	probably benign	Het
Ms4a3	T	C	19: 11,616,630 (GRCm39)	E4G	possibly damaging	Het
Myo15a	A	G	11: 60,418,260 (GRCm39)		probably benign	Het
Or2ag16	A	G	7: 106,351,752 (GRCm39)	V281A	possibly damaging	Het
Or4c10b	A	G	2: 89,711,826 (GRCm39)	I219V	probably damaging	Het
Or51aa2	A	T	7: 103,188,177 (GRCm39)	L88Q	probably damaging	Het
Or51q1c	A	G	7: 103,653,274 (GRCm39)	H264R	probably damaging	Het
Or5b12	T	C	19: 12,896,947 (GRCm39)	H242R	probably damaging	Het
Or6c217	A	G	10: 129,737,722 (GRCm39)	F286L	probably benign	Het
Penk	T	C	4: 4,134,465 (GRCm39)	I61V	probably benign	Het
Pkhd1	T	A	1: 20,290,307 (GRCm39)	K2860N	probably benign	Het
Prtg	C	T	9: 72,762,348 (GRCm39)	P492S	probably damaging	Het
Spata31e2	A	G	1: 26,721,665 (GRCm39)	F1172L	probably benign	Het
Tdrd7	T	C	4: 45,989,225 (GRCm39)		probably benign	Het
Terf2ip	A	G	8: 112,738,700 (GRCm39)	N196S	probably benign	Het
Tgtp1	T	C	11: 48,878,382 (GRCm39)	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,036,932 (GRCm39)	H277R	probably benign	Het
Tshz2	T	A	2: 169,727,456 (GRCm39)	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,873,005 (GRCm39)	V1015E	probably damaging	Het
Utrn	T	A	10: 12,516,672 (GRCm39)	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,614,739 (GRCm39)	Y157C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Cstdc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02321:Cstdc6	APN	16	36,143,388 (GRCm39)	splice site	probably benign
PIT4581001:Cstdc6	UTSW	16	36,143,294 (GRCm39)	missense	probably benign	0.05
R0200:Cstdc6	UTSW	16	36,143,386 (GRCm39)	critical splice acceptor site	probably null
R0564:Cstdc6	UTSW	16	36,143,346 (GRCm39)	nonsense	probably null
R0608:Cstdc6	UTSW	16	36,143,386 (GRCm39)	critical splice acceptor site	probably null
R1867:Cstdc6	UTSW	16	36,142,148 (GRCm39)	missense	possibly damaging	0.73
R1987:Cstdc6	UTSW	16	36,142,194 (GRCm39)	missense	probably damaging	1.00
R4947:Cstdc6	UTSW	16	36,142,127 (GRCm39)	missense	probably damaging	1.00
R5283:Cstdc6	UTSW	16	36,142,205 (GRCm39)	missense	probably damaging	0.99
R7238:Cstdc6	UTSW	16	36,142,193 (GRCm39)	missense	probably benign	0.29

Posted On

2014-05-07